rs78310315
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Unaffected carrier of an aromatase deficiency mutation |
Make rs78310315(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 51211010 |
Gene | CYP19A1 |
is a | snp |
is | mentioned by |
dbSNP | rs78310315 |
dbSNP (classic) | rs78310315 |
ClinGen | rs78310315 |
ebi | rs78310315 |
HLI | rs78310315 |
Exac | rs78310315 |
Gnomad | rs78310315 |
Varsome | rs78310315 |
LitVar | rs78310315 |
Map | rs78310315 |
PheGenI | rs78310315 |
Biobank | rs78310315 |
1000 genomes | rs78310315 |
hgdp | rs78310315 |
ensembl | rs78310315 |
geneview | rs78310315 |
scholar | rs78310315 |
rs78310315 | |
pharmgkb | rs78310315 |
gwascentral | rs78310315 |
openSNP | rs78310315 |
23andMe | rs78310315 |
SNPshot | rs78310315 |
SNPdbe | rs78310315 |
MSV3d | rs78310315 |
GWAS Ctlg | rs78310315 |
Max Magnitude | 3 |
aka c.1310G>A (p.Cys437Tyr)
FTDNA & MyHeritage name: VG15S12228
ClinVar | |
---|---|
Risk | rs78310315(T;T) |
Alt | rs78310315(T;T) |
Reference | Rs78310315(C;C) |
Significance | Pathogenic |
Disease | Aromatase deficiency |
Variation | info |
Gene | CYP19A1 |
CLNDBN | Aromatase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.51503207C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019394.28, |